Linked Data
dbSNP Id:
rs1562159214
gnomAD v2:
6-31321700-CTTAT-C
gnomAD v3:
6-31353923-CTTAT-C
gnomAD v4:
6-31353923-CTTAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31353927_31353930del , CM000668.2:g.31353927_31353930del | GRCh38 |
| NC_000006.11:g.31321704_31321707del , CM000668.1:g.31321704_31321707del | GRCh37 |
| NC_000006.10:g.31429683_31429686del | NCBI36 |
| NG_023187.1:g.8286_8289del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.3510_3513del | ||
| ENST00000481849.6:n.3470_3473del | ||
| ENST00000497377.6:n.3377_3380del | ||
| ENST00000696558.1:c.1532_1535del | ENSP00000512716.1:n.1532_1535del | |
| ENST00000696559.1:c.*374_*377del | ENSP00000512717.1:n.*374_*377del | |
| ENST00000696560.1:c.*374_*377del | ENSP00000512718.1:n.*374_*377del | |
| ENST00000696561.1:c.*374_*377del | ENSP00000512719.1:n.*374_*377del | |
| ENST00000696562.1:c.*374_*377del | ENSP00000512720.1:n.*374_*377del | |
| ENST00000412585.7:c.*374_*377del MANE Select | ENSP00000399168.2:n.*374_*377del | |
| ENST00000412585.6:c.*374_*377del | ENSP00000399168.2:n.*374_*377del | |
| ENST00000481849.5:n.698_701del | ||
| ENST00000497377.5:n.862_865del | ||
| NM_005514.6:c.*374_*377del | NP_005505.2:n.*374_*377del | |
| XM_011514556.1:c.*374_*377del | XP_011512858.1:n.*374_*377del | |
| XM_011514557.1:c.*374_*377del | XP_011512859.1:n.*374_*377del | |
| XR_926175.1:n.1902_1905del | ||
| NM_005514.7:c.*374_*377del | NP_005505.2:n.*374_*377del | |
| NM_005514.8:c.*374_*377del MANE Select | NP_005505.2:n.*374_*377del |